scholarly journals Suicidality and Self-Harming Behaviors in Patients with Prader-Willi Syndrome (PWS): Case Report and Literature Review

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Val Bellman ◽  
Zargham Abbass ◽  
Ramsa Sohail ◽  
Syed Jafri
Keyword(s):  
Behavioral Problems ◽  
Suicide Risk ◽  
Mental Health Problems ◽  
Neurodevelopmental Disorder ◽  
Prader Willi Syndrome ◽  
Insulin Administration ◽  
Mild Intellectual Disability ◽  
Behavioral Challenges ◽  
Suicide Risk Factors ◽  
Relapse Rates

Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder which is often associated with significant behavioral challenges and poor intellectual functioning. Research has shown that individuals with PWS are more likely to experience mental health problems, have higher relapse rates, and are at risk of self-harming behavior. Although PWS is associated with mild intellectual disability, which in itself confers a higher mortality rate, suicidality in this population is so far unreported in the literature. We present the case of an 18-year-old male patient who was admitted to our facility following exogenous insulin administration with suicidal intent. The main clinical characteristics, self-harming behaviors, and suicide risk factors of patients with PWS are discussed in this report. The article’s objective is to redirect clinicians’ attention to carefully screen and treat the underlying behavioral problems in PWS patients.

scholarly journals Hair cortisol-a method to detect chronic cortisol levels in patients with Prader-Willi syndrome

2020 ◽  
Author(s):  
Hasanain Hamid Shukur ◽  
Yolanda B de Rijke ◽  
Elisabeth FC van Rossum ◽  
Laith Hussain-Alkhateeb ◽  
Charlotte Höybye
Keyword(s):  
Linear Regression ◽  
Regression Model ◽  
Behavioral Problems ◽  
Linear Regression Model ◽  
Neurodevelopmental Disorder ◽  
Prader Willi Syndrome ◽  
Hair Cortisol ◽  
Hair Samples ◽  
Cortisol Levels

Abstract Background: Prader-Willi syndrome (PWS) is a multisymptomatic, rare, genetic, neurodevelopmental disorder in adults mainly characterized by hyperphagia, cognitive dysfunction, behavioral problems and risk of morbid obesity. Although endocrine insufficiencies are common, hypocortisolism is rare and knowledge on long-term cortisol concentrations is lacking. The aim of this study was to evaluate long-term cortisol levels in PWS by measurements of hair cortisol. Methods: Twenty-nine adults with PWS, 15 men and 14 women, median age 29 years, median BMI 27 kg/m2, were included. Scalp hair samples were analyzed for cortisol content using liquid-chromatography tandem-mass spectrometry. In addition, a questionnaire on auxology, medication and stress were included. For comparison, 105 age- and sex-matched participants from the population-based Lifelines Cohort study were included as controls. The mean hair cortisol between the groups were compared and associations between BMI and stress were assessed by a generalized linear regression model. Results: In the PWS group large variations in hair cortisol was seen. Mean hair cortisol was 12.8±25.4 pg/mg compared to 3.8±7.3 pg/mg in controls (p=0.001). The linear regression model similarly showed higher cortisol levels in patients with PWS, which remained consistent after adjusting for BMI and stress (p=0.023). Furthermore, hair cortisol increased with BMI (p=0.012) and reported stress (p=0.014). Conclusion: Long-term cortisol concentrations were higher in patients with PWS compared to controls and increased with BMI and stress, suggesting an adequate cortisol response to chronic stress. Hair cortisol demonstrate promising applications in the context of PWS treatment and disease management.

scholarly journals Hair cortisol-a method to detect chronic cortisol levels in patients with Prader-Willi syndrome

2020 ◽  
Author(s):  
Hasanain Hamid Shukur ◽  
Yolanda B de Rijke ◽  
Elisabeth FC van Rossum ◽  
Laith Hussain-Alkhateeb ◽  
Charlotte Höybye
Keyword(s):  
Linear Regression ◽  
Regression Model ◽  
Behavioral Problems ◽  
Linear Regression Model ◽  
Neurodevelopmental Disorder ◽  
Prader Willi Syndrome ◽  
Hair Cortisol ◽  
Hair Samples ◽  
Cortisol Levels

Abstract Background: Prader-Willi syndrome (PWS) is a multisymptomatic, rare, genetic, neurodevelopmental disorder in adults mainly characterized by hyperphagia, cognitive dysfunction, behavioral problems and risk of morbid obesity. Although endocrine insufficiencies are common, hypocortisolism is rare and knowledge on long-term cortisol concentrations is lacking. The aim of this study was to evaluate long-term cortisol levels in PWS by measurements of hair cortisol.Methods: Twenty-nine adults with PWS, 15 men and 14 women, median age 29 years, median BMI 27 kg/m2, were included. Scalp hair samples were analyzed for cortisol content using liquid-chromatography tandem-mass spectrometry. In addition, a questionnaire on auxology, medication and stress were included. For comparison, 105 age- and sex-matched participants from the population-based Lifelines Cohort study were included as controls. The mean hair cortisol between the groups were compared and associations between BMI and stress were assessed by a generalized linear regression model.Results: In the PWS group large variations in hair cortisol was seen. Mean hair cortisol was 12.8±25.4 pg/mg compared to 3.8±7.3 pg/mg in controls (p=0.001). The linear regression model similarly showed higher cortisol levels in patients with PWS, which remained consistent after adjusting for BMI and stress (p=0.023). Furthermore, hair cortisol increased with BMI (p=0.012) and reported stress (p=0.014).Conclusion: Long-term cortisol concentrations were higher in patients with PWS compared to controls and increased with BMI and stress, suggesting an adequate cortisol response to chronic stress. Hair cortisol demonstrate promising applications in the context of PWS treatment and disease management.

scholarly journals Hair cortisol-a method to detect chronic cortisol levels in patients with Prader-Willi syndrome

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Hasanain Hamid Shukur ◽  
Yolanda B. de Rijke ◽  
Elisabeth F. C. van Rossum ◽  
Laith Hussain-Alkhateeb ◽  
Charlotte Höybye
Keyword(s):  
Linear Regression ◽  
Regression Model ◽  
Behavioral Problems ◽  
Linear Regression Model ◽  
Neurodevelopmental Disorder ◽  
Prader Willi Syndrome ◽  
Hair Cortisol ◽  
Hair Samples ◽  
Cortisol Levels

Abstract Background Prader-Willi syndrome (PWS) is a multisymptomatic, rare, genetic, neurodevelopmental disorder in adults mainly characterized by hyperphagia, cognitive dysfunction, behavioral problems and risk of morbid obesity. Although endocrine insufficiencies are common, hypocortisolism is rare and knowledge on long-term cortisol concentrations is lacking. The aim of this study was to evaluate long-term cortisol levels in PWS by measurements of hair cortisol. Methods Twenty-nine adults with PWS, 15 men and 14 women, median age 29 years, median BMI 27 kg/m2, were included. Scalp hair samples were analyzed for cortisol content using liquid-chromatography tandem-mass spectrometry. In addition, a questionnaire on auxology, medication and stress were included. For comparison, 105 age- and sex-matched participants from the population-based Lifelines Cohort study were included as controls. The mean hair cortisol between the groups were compared and associations between BMI and stress were assessed by a generalized linear regression model. Results In the PWS group large variations in hair cortisol was seen. Mean hair cortisol was 12.8 ± 25.4 pg/mg compared to 3.8 ± 7.3 pg/mg in controls (p = 0.001). The linear regression model similarly showed higher cortisol levels in patients with PWS, which remained consistent after adjusting for BMI and stress (p = 0.023). Furthermore, hair cortisol increased with BMI (p = 0.012) and reported stress (p = 0.014). Conclusion Long-term cortisol concentrations were higher in patients with PWS compared to controls and increased with BMI and stress, suggesting an adequate cortisol response to chronic stress. Hair cortisol demonstrate promising applications in the context of PWS treatment and disease management.

scholarly journals Mental health problems in children with prader-willi syndrome

2011 ◽  
Vol 26 (S2) ◽  
pp. 354-354 ◽  
Author(s):  
N. Skokauskas ◽  
J. Meehan ◽  
L. Gallagher
Keyword(s):  
Mental Health Problems ◽  
Neurodevelopmental Disorder ◽  
Brief Symptom Inventory ◽  
Psychological Disorder ◽  
Control Group ◽  
Prader Willi Syndrome ◽  
Special Schools ◽  
Demographic Questionnaire ◽  
Genetically Determined ◽  
And Control

IntroductionPrader-Willi Syndrome (PWS) is a genetically determined neurodevelopmental disorder which occurs in approximately 1 in 22000 births.MethodsParents of subjects with genetically confirmed PWS (participating in the First National Irish PWS study) were asked to fill in a demographic questionnaire, The Child Behaviour Checklist 6–18 (CBCL/6–18), Brief Symptom Inventory (BSI). The age, gender and IQ matched control group was collected through Special Schools.ResultsBoth groups (PWS and Controls) were comprised of 24 children. Internalizing problems score was higher in children with PWS than controls (T mean score (62.02 (SD = 10.17) vs. 58.13 (SD = 7.53) p < . 05). The comparison of PWS and control group along CBCL/6–18 syndromes profiles indicated that children with PWS had more sever somatic problems (mean T 63.50 SD = 8.41 vs. 56.13 SD = 6.31, p< .05), social problems (mean T 64.71 SD = 8.95 vs. 58.79 SD = 9.41, p < .05), thoughts problems (mean T 67.71 SD = 9.71 vs. 58.04 SD = 7.17, p < .05) and were more withdrawn/depressed (mean T 64.04 SD = 9.11 vs. 55.46 SD = 6.48, p < .05). Borderline difficulties were detected for the affective, somatic and ADHD CBCL DSM orientated subscales in PWS group with PWS children having significantly more somatic (mean T 63.05 SD = 8.33 vs. 52.00 SD = 6.48, P < .05) and affective (mean T 66.22 SD = 8.51, vs. 60.08 SD = 6.829 P < .05) problems than controls. The analysis of BSI scales revealed that parents of PSW children in comparison to controls had more somatization, phobic anxiety, obsessive compulsion, and anxiety problems.ConclusionsPWS represents a complex psychological disorder with multiple areas of disturbances.

scholarly journals Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility.

2021 ◽  
Author(s):  
Anna Kaitlyn Victor ◽  
Martin Donaldson ◽  
Daniel Johnson ◽  
Winston Miller ◽  
Lawrence Reiter
Keyword(s):  
Behavioral Problems ◽  
Neurodevelopmental Disorder ◽  
Uniparental Disomy ◽  
Autism Spectrum ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Mitochondrial Defects ◽  
Mitochondrial Transcripts ◽  
Global Reduction

Background: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by hormonal dysregulation, obesity, intellectual disability, and behavioral problems. Most PWS cases are caused by paternal interstitial deletions of 15q11.2-q13.1, while a smaller number of cases are caused by chromosome 15 maternal uniparental disomy (PW-UPD). Children with PW-UPD are at higher risk for developing autism spectrum disorder (ASD) than the neurotypical population. In this study, we used expression analysis of PW-UPD neurons to try to identify the molecular cause for increased autism risk. Methods: Dental pulp stem cells (DPSC) from neurotypical control and PWS subjects were differentiated to neurons for mRNA sequencing. Significantly differentially expressed transcripts among all groups were identified. Downstream protein analysis including immunocytochemistry and immunoblots were performed to confirm the transcript level data and pathway enrichment findings. Results: We identified 9 transcripts outside of the PWS critical region (15q11.2-q13.1) that may contribute to core PWS phenotypes. Moreover, we discovered a global reduction in mitochondrial transcripts in the PW-UPD +ASD group. We also found decreased mitochondrial abundance along with mitochondrial aggregates in the cell body and neural projections of +ASD neurons. Conclusions: The 9 transcripts we identified common to all PWS subtypes may reveal PWS specific defects during neurodevelopment. Importantly, we found a global reduction in mitochondrial transcripts in PW-UPD +ASD neurons versus control and other PWS subtypes. We then confirmed mitochondrial defects in neurons from individuals with PWS at the cellular level. Quantification of this phenotype supports our hypothesis that the increased incidence of ASD in PW-UPD subjects may arise from mitochondrial defects in developing neurons.

scholarly journals Hair cortisol- a novel method to explore Prader-Willi syndrome.

2020 ◽  
Author(s):  
Hasanain Hamid Shukur ◽  
Yolanda B de Rijke ◽  
Elisabeth FC van Rossum ◽  
Laith Hussain-Alkhateeb ◽  
Charlotte Höybye
Keyword(s):  
Linear Regression ◽  
Regression Model ◽  
Behavioral Problems ◽  
Linear Regression Model ◽  
Neurodevelopmental Disorder ◽  
Prader Willi Syndrome ◽  
Hair Cortisol ◽  
Hair Samples ◽  
Cortisol Levels

Abstract Background: Prader-Willi syndrome (PWS) is a multisymptomatic, rare, genetic, neurodevelopmental disorder in adults mainly characterized by hyperphagia, cognitive dysfunction, behavioral problems and risk of morbid obesity. Although endocrine insufficiencies are common, hypocortisolism is rare and knowledge on long-term cortisol concentrations is lacking. The aim of this study was to evaluate long-term cortisol levels in PWS by measurements of hair cortisol. Methods: Twenty-nine adults with PWS, 15 men and 14 women, median age 29 years, median BMI 27 kg/m2, were included. Scalp hair samples were analyzed for cortisol content using liquid-chromatography tandem-mass spectrometry. In addition, a questionnaire on auxology, medication and stress were included. For comparison, 105 age- and sex-matched participants from the population-based Lifelines Cohort study were included as controls. The mean hair cortisol between the groups were compared and associations between BMI and stress were assessed by a generalized linear regression model. Results: In the PWS group large variations in hair cortisol was seen. Mean hair cortisol was 12.8±25.4 pg/mg compared to 3.8±7.3 pg/mg in controls (p=0.001). The linear regression model similarly showed higher cortisol levels in patients with PWS, which remained consistent after adjusting for BMI and stress (p=0.023). Furthermore, hair cortisol increased with BMI (p=0.012) and reported stress (p=0.014). Conclusion: Long-term cortisol concentrations were higher in patients with PWS compared to controls and increased with BMI and stress, suggesting an adequate cortisol response to chronic stress. Hair cortisol demonstrate promising applications in the context of PWS treatment and disease management.

scholarly journals Hair cortisol-a method to detect chronic cortisol levels in patients with Prader-Willi syndrome

2020 ◽  
Author(s):  
Hasanain Hamid Shukur ◽  
Yolanda B de Rijke ◽  
Elisabeth FC van Rossum ◽  
Laith Hussain-Alkhateeb ◽  
Charlotte Höybye
Keyword(s):  
Linear Regression ◽  
Regression Model ◽  
Behavioral Problems ◽  
Linear Regression Model ◽  
Neurodevelopmental Disorder ◽  
Prader Willi Syndrome ◽  
Hair Cortisol ◽  
Hair Samples ◽  
Cortisol Levels

Abstract Background: Prader-Willi syndrome (PWS) is a multisymptomatic, rare, genetic, neurodevelopmental disorder in adults mainly characterized by hyperphagia, cognitive dysfunction, behavioral problems and risk of morbid obesity. Although endocrine insufficiencies are common, hypocortisolism is rare and knowledge on long-term cortisol concentrations is lacking. The aim of this study was to evaluate long-term cortisol levels in PWS by measurements of hair cortisol. Methods: Twenty-nine adults with PWS, 15 men and 14 women, median age 29 years, median BMI 27 kg/m2, were included. Scalp hair samples were analyzed for cortisol content using liquid-chromatography tandem-mass spectrometry. In addition, a questionnaire on auxology, medication and stress were included. For comparison, 105 age- and sex-matched participants from the population-based Lifelines Cohort study were included as controls. The mean hair cortisol between the groups were compared and associations between BMI and stress were assessed by a generalized linear regression model. Results: In the PWS group large variations in hair cortisol was seen. Mean hair cortisol was 12.8±25.4 pg/mg compared to 3.8±7.3 pg/mg in controls (p=0.001). The linear regression model similarly showed higher cortisol levels in patients with PWS, which remained consistent after adjusting for BMI and stress (p=0.023). Furthermore, hair cortisol increased with BMI (p=0.012) and reported stress (p=0.014). Conclusion: Long-term cortisol concentrations were higher in patients with PWS compared to controls and increased with BMI and stress, suggesting an adequate cortisol response to chronic stress. Hair cortisol demonstrate promising applications in the context of PWS treatment and disease management.

scholarly journals Hair cortisol-a method to detect chronic cortisol levels in patients with Prader-Willi syndrome

2020 ◽  
Author(s):  
Hasanain Hamid Shukur ◽  
Yolanda B de Rijke ◽  
Elisabeth FC van Rossum ◽  
Laith Hussain-Alkhateeb ◽  
Charlotte Höybye
Keyword(s):  
Linear Regression ◽  
Regression Model ◽  
Behavioral Problems ◽  
Linear Regression Model ◽  
Neurodevelopmental Disorder ◽  
Prader Willi Syndrome ◽  
Hair Cortisol ◽  
Hair Samples ◽  
Cortisol Levels

Abstract Background: Prader-Willi syndrome (PWS) is a multisymptomatic, rare, genetic, neurodevelopmental disorder in adults mainly characterized by hyperphagia, cognitive dysfunction, behavioral problems and risk of morbid obesity. Although endocrine insufficiencies are common, hypocortisolism is rare and knowledge on long-term cortisol concentrations is lacking. The aim of this study was to evaluate long-term cortisol levels in PWS by measurements of hair cortisol.Methods: Twenty-nine adults with PWS, 15 men and 14 women, median age 29 years, median BMI 27 kg/m2, were included. Scalp hair samples were analyzed for cortisol content using liquid-chromatography tandem-mass spectrometry. In addition, a questionnaire on auxology, medication and stress were included. For comparison, 105 age- and sex-matched participants from the population-based Lifelines Cohort study were included as controls. The mean hair cortisol between the groups were compared and associations between BMI and stress were assessed by a generalized linear regression model.Results: In the PWS group large variations in hair cortisol was seen. Mean hair cortisol was 12.8±25.4 pg/mg compared to 3.8±7.3 pg/mg in controls (p=0.001). The linear regression model similarly showed higher cortisol levels in patients with PWS, which remained consistent after adjusting for BMI and stress (p=0.023). Furthermore, hair cortisol increased with BMI (p=0.012) and reported stress (p=0.014).Conclusion: Long-term cortisol concentrations were higher in patients with PWS compared to controls and increased with BMI and stress, suggesting an adequate cortisol response to chronic stress. Hair cortisol demonstrate promising applications in the context of PWS treatment and disease management.

scholarly journals Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility

2021 ◽  
Vol 14 ◽  
Author(s):  
A. Kaitlyn Victor ◽  
Martin Donaldson ◽  
Daniel Johnson ◽  
Winston Miller ◽  
Lawrence T. Reiter
Keyword(s):  
Behavioral Problems ◽  
Neurodevelopmental Disorder ◽  
Uniparental Disomy ◽  
Autism Spectrum ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Mitochondrial Defects ◽  
Mitochondrial Transcripts ◽  
Global Reduction

Background: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by hormonal dysregulation, obesity, intellectual disability, and behavioral problems. Most PWS cases are caused by paternal interstitial deletions of 15q11.2-q13.1, while a smaller number of cases are caused by chromosome 15 maternal uniparental disomy (PW-UPD). Children with PW-UPD are at higher risk for developing autism spectrum disorder (ASD) than the neurotypical population. In this study, we used expression analysis of PW-UPD neurons to try to identify the molecular cause for increased autism risk.Methods: Dental pulp stem cells (DPSC) from neurotypical control and PWS subjects were differentiated to neurons for mRNA sequencing. Significantly differentially expressed transcripts among all groups were identified. Downstream protein analysis including immunocytochemistry and immunoblots were performed to confirm the transcript level data and pathway enrichment findings.Results: We identified 9 transcripts outside of the PWS critical region (15q11.2-q13.1) that may contribute to core PWS phenotypes. Moreover, we discovered a global reduction in mitochondrial transcripts in the PW-UPD + ASD group. We also found decreased mitochondrial abundance along with mitochondrial aggregates in the cell body and neural projections of +ASD neurons.Conclusion: The 9 transcripts we identified common to all PWS subtypes may reveal PWS specific defects during neurodevelopment. Importantly, we found a global reduction in mitochondrial transcripts in PW-UPD + ASD neurons versus control and other PWS subtypes. We then confirmed mitochondrial defects in neurons from individuals with PWS at the cellular level. Quantification of this phenotype supports our hypothesis that the increased incidence of ASD in PW-UPD subjects may arise from mitochondrial defects in developing neurons.

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